The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome

Am J Med Genet. 1988 Dec;31(4):805-14. doi: 10.1002/ajmg.1320310413.

Abstract

We describe 2 sibs with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies. Both infants died shortly after birth with severe respiratory distress. Postmortem examination showed gross internal anomalies: Dandy-Walker malformation, ventricular septal defect, and renal cystic dysplasia. This combination of anomalies, also termed the Fryns syndrome, appears to be a distinct MCA syndrome with variable expression and probable autosomal recessive inheritance. Prenatal ultrasonographic diagnosis was successful in both patients.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Face / abnormalities
  • Female
  • Genes, Recessive
  • Genetic Testing
  • Hernia, Diaphragmatic / genetics
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital
  • Male